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Editorial

Long reads decipher genomes and transcriptomes and offer novel insights into biology and diseases

Ana Conesa
Alexander Hoischen
Fritz J. Sedlazeck

First Published April 14, 2025

Research

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert
Lydia Sagath
German Demidov
Vicente A. Yépez
Anna Esteve-Codina
Julien Gagneur Kornelia Ellwanger Ronny Derks Marjan Weiss Amber den Ouden Simone van den Heuvel Hilde Swinkels Nick Zomer Marloes Steehouwer Luke O'Gorman Galuh Astuti Kornelia Neveling Rebecca Schüle Jishu Xu Matthis Synofzik Danique Beijer Holger Hengel Ludger Schöls Kristl G. Claeys Jonathan Baets Liedewei Van de Vondel Alessandra Ferlini Rita Selvatici Heba Morsy Marwa Saeed Abd Elmaksoud Volker Straub Juliane Müller Veronica Pini Luke Perry Anna Sarkozy Irina Zaharieva Francesco Muntoni Enrico Bugiardini Kiran Polavarapu Rita Horvath Evan Reid Hanns Lochmüller Marco Spinazzi Marco Savarese Leslie Matalonga Steven Laurie Han G. Brunner Holm Graessner Sergi Beltran
... [+44 authors] ...,
Stephan Ossowski
Lisenka E.L.M. Vissers
Christian Gilissen
Alexander Hoischen

First Published March 26, 2025

Research

Optical genome mapping enables accurate testing of large repeat expansions

Bart van der Sanden
Kornelia Neveling
Syukri Shukor
Michael D. Gallagher
Joyce Lee
Stephanie L. Burke Maartje Pennings Ronald van Beek Michiel Oorsprong Ellen Kater-Baats Eveline Kamping Alide A. Tieleman Nicol C. Voermans Ingrid E. Scheffer Jozef Gecz Mark A. Corbett Lisenka E.L.M. Vissers
... [+12 authors] ...,
Andy Wing Chun Pang
Alex Hastie
Erik-Jan Kamsteeg
Alexander Hoischen

First Published March 20, 2025

Research

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

Merel Stemerdink
Tabea Riepe
Nick Zomer
Renee Salz
Michael Kwint
Jaap Oostrik Raoul Timmermans Barbara Ferrari Stefano Ferrari Alfredo Dueñas Rey Emma Delanote Suzanne E. de Bruijn Hannie Kremer Susanne Roosing Frauke Coppieters Alexander Hoischen
... [+11 authors] ...,
Frans P.M. Cremers
Peter A.C. ‘t Hoen
Erwin van Wijk
Erik de Vrieze

First Published March 4, 2025

Editorial

Revolutionizing genomics and medicine—one long molecule at a time

Ana Conesa
Alexander Hoischen
Fritz J. Sedlazeck

First Published November 20, 2024

Method

Accurate sequencing of DNA motifs able to form alternative (non-B) structures

Matthias H. Weissensteiner
Marzia A. Cremona
Wilfried M. Guiblet
Nicholas Stoler
Robert S. Harris
Monika Cechova
... [+1 authors] ...,
Kristin A. Eckert
Francesca Chiaromonte
Yi-Fei Huang
Kateryna D. Makova

First Published July 11, 2023

Research

Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome

Wilfried M. Guiblet
Michael DeGiorgio
Xiaoheng Cheng
Francesca Chiaromonte
Kristin A. Eckert
Yi-Fei Huang
Kateryna D. Makova

First Published June 29, 2021

Research

Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate

Wilfried M. Guiblet
Marzia A. Cremona
Monika Cechova
Robert S. Harris
Iva Kejnovská
Eduard Kejnovsky
Kristin Eckert
Francesca Chiaromonte
Kateryna D. Makova

First Published November 6, 2018

Corrigendum

Corrigendum: A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?

Arkarachai Fungtammasan
Erin Walsh
Francesca Chiaromonte
Kristin A. Eckert
Kateryna D. Makova

First Published October 3, 2016

Research

A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?

Arkarachai Fungtammasan
Erin Walsh
Francesca Chiaromonte
Kristin A. Eckert
Kateryna D. Makova

First Published March 28, 2012

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